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Select item 14914732911.

rs1491473291 has merged into rs56312204 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGAA>-,GAA,GAAGAAGAA,GAAGAAGAAGAA [Show Flanks]
Chromosome:: 3:190390551 (GRCh38)
3:190108340 (GRCh37)
Canonical SPDI:: NC_000003.12:190390536:AAGAAGAAGAAGAAGAAGAA:AAGAAGAAGAAGAA,NC_000003.12:190390536:AAGAAGAAGAAGAAGAAGAA:AAGAAGAAGAAGAAGAA,NC_000003.12:190390536:AAGAAGAAGAAGAAGAAGAA:AAGAAGAAGAAGAAGAAGAAGAA,NC_000003.12:190390536:AAGAAGAAGAAGAAGAAGAA:AAGAAGAAGAAGAAGAAGAAGAAGAA
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAGAAGAAGAAGAAGAAGAAGAA=0./0 (ALFA)
-=0.1584/588 (1000Genomes)
HGVS:: NC_000003.12:g.190390539GAA[4], NC_000003.12:g.190390539GAA[5], NC_000003.12:g.190390539GAA[7], NC_000003.12:g.190390539GAA[8], NC_000003.11:g.190108328GAA[4], NC_000003.11:g.190108328GAA[5], NC_000003.11:g.190108328GAA[7], NC_000003.11:g.190108328GAA[8], NG_008149.1:g.7488GAA[4], NG_008149.1:g.7488GAA[5], NG_008149.1:g.7488GAA[7], NG_008149.1:g.7488GAA[8]

Select item 14913068372.

rs1491306837 has merged into rs58465741 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:190393757 (GRCh38)
3:190111546 (GRCh37)
Canonical SPDI:: NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190393747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2728/1366 (1000Genomes)
HGVS:: NC_000003.12:g.190393757_190393768del, NC_000003.12:g.190393759_190393768del, NC_000003.12:g.190393760_190393768del, NC_000003.12:g.190393761_190393768del, NC_000003.12:g.190393763_190393768del, NC_000003.12:g.190393765_190393768del, NC_000003.12:g.190393766_190393768del, NC_000003.12:g.190393767_190393768del, NC_000003.12:g.190393768del, NC_000003.12:g.190393768dup, NC_000003.12:g.190393767_190393768dup, NC_000003.12:g.190393766_190393768dup, NC_000003.12:g.190393765_190393768dup, NC_000003.12:g.190393763_190393768dup, NC_000003.12:g.190393762_190393768dup, NC_000003.12:g.190393761_190393768dup, NC_000003.12:g.190393751_190393768dup, NC_000003.12:g.190393768_190393769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190111546_190111557del, NC_000003.11:g.190111548_190111557del, NC_000003.11:g.190111549_190111557del, NC_000003.11:g.190111550_190111557del, NC_000003.11:g.190111552_190111557del, NC_000003.11:g.190111554_190111557del, NC_000003.11:g.190111555_190111557del, NC_000003.11:g.190111556_190111557del, NC_000003.11:g.190111557del, NC_000003.11:g.190111557dup, NC_000003.11:g.190111556_190111557dup, NC_000003.11:g.190111555_190111557dup, NC_000003.11:g.190111554_190111557dup, NC_000003.11:g.190111552_190111557dup, NC_000003.11:g.190111551_190111557dup, NC_000003.11:g.190111550_190111557dup, NC_000003.11:g.190111540_190111557dup, NC_000003.11:g.190111557_190111558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.10706_10717del, NG_008149.1:g.10708_10717del, NG_008149.1:g.10709_10717del, NG_008149.1:g.10710_10717del, NG_008149.1:g.10712_10717del, NG_008149.1:g.10714_10717del, NG_008149.1:g.10715_10717del, NG_008149.1:g.10716_10717del, NG_008149.1:g.10717del, NG_008149.1:g.10717dup, NG_008149.1:g.10716_10717dup, NG_008149.1:g.10715_10717dup, NG_008149.1:g.10714_10717dup, NG_008149.1:g.10712_10717dup, NG_008149.1:g.10711_10717dup, NG_008149.1:g.10710_10717dup, NG_008149.1:g.10700_10717dup, NG_008149.1:g.10717_10718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911093283.

rs1491109328 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATGCATGTATATATGCACAC,GTATATGCATGTATATATGCACACACGTATATGCATGTATATATGCACAC,GTATATGTATGTATATATGCACAC,TTATATGCATGTATATATGCACAC [Show Flanks]
Chromosome:: 3:190409186 (GRCh38)
3:190126976 (GRCh37)
Canonical SPDI:: NC_000003.12:190409186:CACAC:CACACGTATATGCATGTATATATGCACAC,NC_000003.12:190409186:CACAC:CACACGTATATGCATGTATATATGCACACACGTATATGCATGTATATATGCACAC,NC_000003.12:190409186:CACAC:CACACGTATATGTATGTATATATGCACAC,NC_000003.12:190409186:CACAC:CACACTTATATGCATGTATATATGCACAC
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACGTATATGCATGTATATATGCACAC=0.07739/279 (ALFA)
CACACGTATATGCATGTATATATG=0.08893/53 (NorthernSweden)
CACACGTATATGCATGTATATATG=0.1919/3202 (TOMMO)
HGVS:: NC_000003.12:g.190409187_190409191CA[2]CGTATATGCATGTATATATGCACAC[1], NC_000003.12:g.190409187_190409191CACACGTATATGCATGTATATATGCA[2]CAC[1], NC_000003.12:g.190409187_190409191CA[2]CGTATATGTATGTATATATGCACAC[1], NC_000003.12:g.190409187_190409191CA[2]CTTATATGCATGTATATATGCACAC[1], NC_000003.11:g.190126976_190126980CA[2]CGTATATGCATGTATATATGCACAC[1], NC_000003.11:g.190126976_190126980CACACGTATATGCATGTATATATGCA[2]CAC[1], NC_000003.11:g.190126976_190126980CA[2]CGTATATGTATGTATATATGCACAC[1], NC_000003.11:g.190126976_190126980CA[2]CTTATATGCATGTATATATGCACAC[1], NG_008149.1:g.26136_26140CA[2]CGTATATGCATGTATATATGCACAC[1], NG_008149.1:g.26136_26140CACACGTATATGCATGTATATATGCA[2]CAC[1], NG_008149.1:g.26136_26140CA[2]CGTATATGTATGTATATATGCACAC[1], NG_008149.1:g.26136_26140CA[2]CTTATATGCATGTATATATGCACAC[1]

Select item 14910828624.

rs1491082862 has merged into rs35220103 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:190392070 (GRCh38)
3:190109859 (GRCh37)
Canonical SPDI:: NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190392059:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTT=0.05189/200 (ALSPAC)
TTTTTTTTTTTT=0.05636/209 (TWINSUK)
HGVS:: NC_000003.12:g.190392070_190392076del, NC_000003.12:g.190392073_190392076del, NC_000003.12:g.190392074_190392076del, NC_000003.12:g.190392075_190392076del, NC_000003.12:g.190392076del, NC_000003.12:g.190392076dup, NC_000003.12:g.190392075_190392076dup, NC_000003.12:g.190392074_190392076dup, NC_000003.12:g.190392073_190392076dup, NC_000003.12:g.190392072_190392076dup, NC_000003.12:g.190392071_190392076dup, NC_000003.12:g.190392070_190392076dup, NC_000003.12:g.190392068_190392076dup, NC_000003.12:g.190392067_190392076dup, NC_000003.12:g.190392066_190392076dup, NC_000003.12:g.190392065_190392076dup, NC_000003.12:g.190392064_190392076dup, NC_000003.12:g.190392063_190392076dup, NC_000003.12:g.190392062_190392076dup, NC_000003.12:g.190392061_190392076dup, NC_000003.12:g.190392060_190392076dup, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190392076_190392077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109859_190109865del, NC_000003.11:g.190109862_190109865del, NC_000003.11:g.190109863_190109865del, NC_000003.11:g.190109864_190109865del, NC_000003.11:g.190109865del, NC_000003.11:g.190109865dup, NC_000003.11:g.190109864_190109865dup, NC_000003.11:g.190109863_190109865dup, NC_000003.11:g.190109862_190109865dup, NC_000003.11:g.190109861_190109865dup, NC_000003.11:g.190109860_190109865dup, NC_000003.11:g.190109859_190109865dup, NC_000003.11:g.190109857_190109865dup, NC_000003.11:g.190109856_190109865dup, NC_000003.11:g.190109855_190109865dup, NC_000003.11:g.190109854_190109865dup, NC_000003.11:g.190109853_190109865dup, NC_000003.11:g.190109852_190109865dup, NC_000003.11:g.190109851_190109865dup, NC_000003.11:g.190109850_190109865dup, NC_000003.11:g.190109849_190109865dup, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109865_190109866insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9019_9025del, NG_008149.1:g.9022_9025del, NG_008149.1:g.9023_9025del, NG_008149.1:g.9024_9025del, NG_008149.1:g.9025del, NG_008149.1:g.9025dup, NG_008149.1:g.9024_9025dup, NG_008149.1:g.9023_9025dup, NG_008149.1:g.9022_9025dup, NG_008149.1:g.9021_9025dup, NG_008149.1:g.9020_9025dup, NG_008149.1:g.9019_9025dup, NG_008149.1:g.9017_9025dup, NG_008149.1:g.9016_9025dup, NG_008149.1:g.9015_9025dup, NG_008149.1:g.9014_9025dup, NG_008149.1:g.9013_9025dup, NG_008149.1:g.9012_9025dup, NG_008149.1:g.9011_9025dup, NG_008149.1:g.9010_9025dup, NG_008149.1:g.9009_9025dup, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.9025_9026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910723395.

rs1491072339 has merged into rs57481102 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:190391224 (GRCh38)
3:190109013 (GRCh37)
Canonical SPDI:: NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:190391208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.07191/43 (NorthernSweden)
-=0.20523/761 (TWINSUK)
-=0.20939/807 (ALSPAC)
HGVS:: NC_000003.12:g.190391224_190391225del, NC_000003.12:g.190391225del, NC_000003.12:g.190391225dup, NC_000003.12:g.190391224_190391225dup, NC_000003.12:g.190391223_190391225dup, NC_000003.12:g.190391222_190391225dup, NC_000003.12:g.190391219_190391225dup, NC_000003.12:g.190391218_190391225dup, NC_000003.12:g.190391215_190391225dup, NC_000003.12:g.190391209_190391225dup, NC_000003.12:g.190391225_190391226insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.190391225_190391226insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109013_190109014del, NC_000003.11:g.190109014del, NC_000003.11:g.190109014dup, NC_000003.11:g.190109013_190109014dup, NC_000003.11:g.190109012_190109014dup, NC_000003.11:g.190109011_190109014dup, NC_000003.11:g.190109008_190109014dup, NC_000003.11:g.190109007_190109014dup, NC_000003.11:g.190109004_190109014dup, NC_000003.11:g.190108998_190109014dup, NC_000003.11:g.190109014_190109015insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190109014_190109015insTTTTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.8173_8174del, NG_008149.1:g.8174del, NG_008149.1:g.8174dup, NG_008149.1:g.8173_8174dup, NG_008149.1:g.8172_8174dup, NG_008149.1:g.8171_8174dup, NG_008149.1:g.8168_8174dup, NG_008149.1:g.8167_8174dup, NG_008149.1:g.8164_8174dup, NG_008149.1:g.8158_8174dup, NG_008149.1:g.8174_8175insTTTTTTTTTTTTTTTTTTT, NG_008149.1:g.8174_8175insTTTTTTTTTTTTTTTTTTTTTT

Select item 14909633666.

rs1490963366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:190400299 (GRCh38)
3:190118088 (GRCh37)
Canonical SPDI:: NC_000003.12:190400298:C:T
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.190400299C>T, NC_000003.11:g.190118088C>T, NG_008149.1:g.17248C>T

Select item 14908389857.

rs1490838985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:190407650 (GRCh38)
3:190125439 (GRCh37)
Canonical SPDI:: NC_000003.12:190407649:A:T
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.190407650A>T, NC_000003.11:g.190125439A>T, NG_008149.1:g.24599A>T

Select item 14908118358.

rs1490811835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:190393273 (GRCh38)
3:190111062 (GRCh37)
Canonical SPDI:: NC_000003.12:190393272:T:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.190393273T>C, NC_000003.11:g.190111062T>C, NG_008149.1:g.10222T>C

Select item 14906731769.

rs1490673176 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:190408078 (GRCh38)
3:190125867 (GRCh37)
Canonical SPDI:: NC_000003.12:190408077:A:
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.190408078del, NC_000003.11:g.190125867del, NG_008149.1:g.25027del

Select item 149051729410.

rs1490517294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:190392642 (GRCh38)
3:190110431 (GRCh37)
Canonical SPDI:: NC_000003.12:190392641:A:G
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.190392642A>G, NC_000003.11:g.190110431A>G, NG_008149.1:g.9591A>G

Select item 148994919111.

rs1489949191 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:190386915 (GRCh38)
3:190104704 (GRCh37)
Canonical SPDI:: NC_000003.12:190386914:TTTT:TTT
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.190386918del, NC_000003.11:g.190104707del, NG_008149.1:g.3867del

Select item 148992846612.

rs1489928466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:190409055 (GRCh38)
3:190126844 (GRCh37)
Canonical SPDI:: NC_000003.12:190409054:G:A
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.190409055G>A, NC_000003.11:g.190126844G>A, NG_008149.1:g.26004G>A

Select item 148987679813.

rs1489876798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:190407210 (GRCh38)
3:190124999 (GRCh37)
Canonical SPDI:: NC_000003.12:190407209:T:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.190407210T>C, NC_000003.11:g.190124999T>C, NG_008149.1:g.24159T>C

Select item 148909120014.

rs1489091200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:190392335 (GRCh38)
3:190110124 (GRCh37)
Canonical SPDI:: NC_000003.12:190392334:A:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000053/7 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.190392335A>C, NC_000003.11:g.190110124A>C, NG_008149.1:g.9284A>C

Select item 148896780915.

rs1488967809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:190399599 (GRCh38)
3:190117388 (GRCh37)
Canonical SPDI:: NC_000003.12:190399598:G:A,NC_000003.12:190399598:G:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.190399599G>A, NC_000003.12:g.190399599G>C, NC_000003.11:g.190117388G>A, NC_000003.11:g.190117388G>C, NG_008149.1:g.16548G>A, NG_008149.1:g.16548G>C

Select item 148885160416.

rs1488851604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:190407113 (GRCh38)
3:190124902 (GRCh37)
Canonical SPDI:: NC_000003.12:190407112:T:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.190407113T>C, NC_000003.11:g.190124902T>C, NG_008149.1:g.24062T>C

Select item 148855918817.

rs1488559188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:190392302 (GRCh38)
3:190110091 (GRCh37)
Canonical SPDI:: NC_000003.12:190392301:C:T
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.190392302C>T, NC_000003.11:g.190110091C>T, NG_008149.1:g.9251C>T

Select item 148843893318.

rs1488438933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:190403862 (GRCh38)
3:190121651 (GRCh37)
Canonical SPDI:: NC_000003.12:190403861:T:C
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.190403862T>C, NC_000003.11:g.190121651T>C, NG_008149.1:g.20811T>C

Select item 148843734019.

rs1488437340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:190394636 (GRCh38)
3:190112425 (GRCh37)
Canonical SPDI:: NC_000003.12:190394635:A:G,NC_000003.12:190394635:A:T
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.190394636A>G, NC_000003.12:g.190394636A>T, NC_000003.11:g.190112425A>G, NC_000003.11:g.190112425A>T, NG_008149.1:g.11585A>G, NG_008149.1:g.11585A>T

Select item 148828977920.

rs1488289779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:190407225 (GRCh38)
3:190125014 (GRCh37)
Canonical SPDI:: NC_000003.12:190407224:A:G
Gene:: CLDN16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.190407225A>G, NC_000003.11:g.190125014A>G, NG_008149.1:g.24174A>G

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